Canonical Allele Identifier: CA10644360

Gene: SMAD9

Linked Data

• ClinVar Variation Id: 311918
• ClinVar RCV Id: RCV000282549
• dbSNP Id: rs770040180
• gnomAD v2: 13-37494324-A-AGCG
• gnomAD v3: 13-36920187-A-AGCG
• gnomAD v4: 13-36920187-A-AGCG
• MyVariant Identifiers: chr13:g.37494325_37494327dupGCG (hg19) ; chr13:g.37494333_37494334insGCG (hg19) ; chr13:g.37494324_37494325insGCG (hg19) ; chr13:g.36920188_36920190dupGCG (hg38) ; chr13:g.36920196_36920197insGCG (hg38) ; chr13:g.36920187_36920188insGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36920214_36920216dup , CM000675.2:g.36920214_36920216dup	GRCh38
NC_000013.10:g.37494351_37494353dup , CM000675.1:g.37494351_37494353dup	GRCh37
NC_000013.9:g.36392351_36392353dup	NCBI36
NG_016963.1:g.5083_5085dup , LRG_703:g.5083_5085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483941.2:n.253+445_253+447dup
ENST00000350148.10:c.-261_-259dup	ENSP00000239885.6:n.-261_-259dup
ENST00000379826.5:c.-261_-259dup MANE Select	ENSP00000369154.4:n.-261_-259dup
ENST00000350148.9:c.-261_-259dup	ENSP00000239885.6:n.-261_-259dup
ENST00000379826.4:c.-261_-259dup	ENSP00000369154.4:n.-261_-259dup
ENST00000483941.1:n.131+445_131+447dup
NM_001127217.2:c.-261_-259dup , LRG_703t1:c.-261_-259dup	NP_001120689.1:n.-261_-259dup
NM_005905.5:c.-261_-259dup	NP_005896.1:n.-261_-259dup
XM_005266403.2:c.-261_-259dup	XP_005266460.1:n.-261_-259dup
XM_005266404.2:c.-261_-259dup	XP_005266461.1:n.-261_-259dup
XM_006719827.2:c.-187+445_-187+447dup	XP_006719890.1:n.-187+445_-187+447dup
XM_005266403.3:c.-261_-259dup	XP_005266460.1:n.-261_-259dup
XM_005266404.3:c.-261_-259dup	XP_005266461.1:n.-261_-259dup
XM_006719827.3:c.-187+445_-187+447dup	XP_006719890.1:n.-187+445_-187+447dup
NM_001127217.3:c.-261_-259dup MANE Select	NP_001120689.1:n.-261_-259dup
NM_005905.6:c.-261_-259dup	NP_005896.1:n.-261_-259dup